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Morbus Huntington - a human genetic model disease.
Epplen JT, Gencik M, Epplen A, Andrich J, Saft C, Przuntek H. Epplen JT, et al. Among authors: epplen a. Cytogenet Cell Genet. 2000;91(1-4):90-6. doi: 10.1159/000056825. Cytogenet Cell Genet. 2000. PMID: 11173837 Review. No abstract available.
NDUFA2 complex I mutation leads to Leigh disease.
Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP. Hoefs SJ, et al. Among authors: epplen a. Am J Hum Genet. 2008 Jun;82(6):1306-15. doi: 10.1016/j.ajhg.2008.05.007. Am J Hum Genet. 2008. PMID: 18513682 Free PMC article.